Neuropsychological Assessment of Children and Adolescents With Turner Syndrome

NCT ID: NCT03812913

Last Updated: 2024-12-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

70 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-09-05

Study Completion Date

2025-12-05

Brief Summary

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Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete loss of one of the X chromosomes that affects about one in every 2000 female babies born. These young patients described difficulties making friends, understanding others' emotions and intentions, and controlling their own emotions. Difficulties in these domains could led to social withdrawal, to reduced social skills and could have a significant impact on self esteem and mental health as well as on long-term academic and social functioning in affected individuals. The purpose of this project is to identify functional and dysfunctional cognitive and socio-cognitive abilities in these young patients which could account social difficulties described by some of them and their family. To this end, 35 girls with TS and 35 girls with isolated growth hormone deficiency and normal cerebral MRI will be recruited. Subjects will be 7 to 16 years and 11 months of age. Socio-cognitive and cognitive functions will be assessed with neuropsychological and experimental tasks. Questionnaires completed by patient, parents or teacher, will evaluate social and behavioral functioning.

Detailed Description

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Cross-sectional study (2 groups : Turner syndrome, isolated growth hormone deficiency), not randomized, controlled, associating several specialized centers in endocrine diseases.

The pediatric endocrinologist of the participating centers will contact parents of each patient or voluntary child/adolescent in order to inform them of the study.

The visit of inclusion will take place in the participant center during a routine monitoring visit.

The first visit (V1) will take place immediately after the visit of inclusion in order to avoid a specific displacement for the needs for the study. The second visit (V2) will take place in participant's home. Each visit (V1 and V2) will last half-day. The period between V1 and V2 will be three months maximum.

The visits V1 and V2 will be carried out by neuropsychologists of the Laboratoire de Psychologie des Pays de la Loire (LPPL - EA 4638).

Conditions

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Turner Syndrome Isolated Growth Hormone Deficiency Cognitive Functions Social Cognition Pediatrics

Keywords

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Turner syndrome Cognitive Functions Social Cognition Pediatrics

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Turner Syndrome

* 35 girls with Turner syndrome (except patients with part of a Y chromosome in their karyotype and r(X) cases).
* age : 7 years -16 years and 11 months.
* Psychological evaluation of cognition, social cognition and affective cognition

psychological evaluation

Intervention Type BEHAVIORAL

* Neuropsychological and experimental tasks will assess cognitive and socio-cognitive functions.
* Questionnaires will assess psychoaffective aspects (depression, anxiety, self-esteem), and social and behavioral functioning.

isolated GHD

* 35 girls with isolated Growth Hormone Deficiency (GHD).
* age : 7 years -16 years and 11 months.
* Psychological evaluation of cognition, social cognition and affective cognition

psychological evaluation

Intervention Type BEHAVIORAL

* Neuropsychological and experimental tasks will assess cognitive and socio-cognitive functions.
* Questionnaires will assess psychoaffective aspects (depression, anxiety, self-esteem), and social and behavioral functioning.

Interventions

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psychological evaluation

* Neuropsychological and experimental tasks will assess cognitive and socio-cognitive functions.
* Questionnaires will assess psychoaffective aspects (depression, anxiety, self-esteem), and social and behavioral functioning.

Intervention Type BEHAVIORAL

Eligibility Criteria

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Inclusion Criteria

Turner syndrome group :

* girls with diagnosed Turner syndrome.

Isolated GHD group :

* girls with diagnosed isolated growth hormone deficiency

All participants :

* age between 7 years to 16 years and 11 months.
* informed consent signed by the participant and her parents (or her legal representatives)
* being registered in the national social security system

Exclusion Criteria

Turner syndrome group :

* patients with chronic pathology other than Turner syndrome.
* karyotype : part of a Y chromosome and r(X) cases.
* medical treatment other than those usually prescribed in patients with Turner syndrome.

Isolated GHD group :

* patients with chronic pathology other than isolated growth hormone deficiency.
* medical treatment other than those usually prescribed in patients with isolated growth hormone deficiency.

All participants :

* diagnosed intellectual disability (IQ\<70) or intellectual giftedness
* history of acquired brain injury
* sensory disturbances (auditory or visual) incompatible with the achievement of neuropsychological tasks.
* insufficient French language proficiency
Minimum Eligible Age

7 Years

Maximum Eligible Age

16 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Angers

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Régis Coutant, MD PhD

Role: PRINCIPAL_INVESTIGATOR

UH Angers

Locations

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CHU Rennes

Rennes, Ile Et Vilaine, France

Site Status RECRUITING

CHU Nantes

Nantes, Loire Atlantique, France

Site Status RECRUITING

CHU Angers

Angers, Maine Et Loire, France

Site Status RECRUITING

Countries

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France

Central Contacts

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Régis Coutant, MD PhD

Role: CONTACT

Phone: 33(02)41-35-56-55

Email: [email protected]

Emmanuel Quemener, CRA

Role: CONTACT

Phone: 33(02)41-35-45-81

Email: [email protected]

Facility Contacts

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Marc de Kerdanet, MD

Role: primary

Sabine BARON, MD

Role: primary

Regis COUTANT, MD

Role: primary

Emmanuel QUEMENER

Role: backup

References

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LoBue V, Thrasher C. The Child Affective Facial Expression (CAFE) set: validity and reliability from untrained adults. Front Psychol. 2015 Jan 6;5:1532. doi: 10.3389/fpsyg.2014.01532. eCollection 2014.

Reference Type BACKGROUND
PMID: 25610415 (View on PubMed)

Olszanowski M, Pochwatko G, Kuklinski K, Scibor-Rylski M, Lewinski P, Ohme RK. Warsaw set of emotional facial expression pictures: a validation study of facial display photographs. Front Psychol. 2015 Jan 5;5:1516. doi: 10.3389/fpsyg.2014.01516. eCollection 2014.

Reference Type BACKGROUND
PMID: 25601846 (View on PubMed)

Happe FG. An advanced test of theory of mind: understanding of story characters' thoughts and feelings by able autistic, mentally handicapped, and normal children and adults. J Autism Dev Disord. 1994 Apr;24(2):129-54. doi: 10.1007/BF02172093.

Reference Type BACKGROUND
PMID: 8040158 (View on PubMed)

Baron-Cohen S, Leslie AM, Frith U. Does the autistic child have a "theory of mind"? Cognition. 1985 Oct;21(1):37-46. doi: 10.1016/0010-0277(85)90022-8. No abstract available.

Reference Type BACKGROUND
PMID: 2934210 (View on PubMed)

Wimmer H, Perner J. Beliefs about beliefs: representation and constraining function of wrong beliefs in young children's understanding of deception. Cognition. 1983 Jan;13(1):103-28. doi: 10.1016/0010-0277(83)90004-5. No abstract available.

Reference Type BACKGROUND
PMID: 6681741 (View on PubMed)

Gullone E, Taffe J. The Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA): a psychometric evaluation. Psychol Assess. 2012 Jun;24(2):409-17. doi: 10.1037/a0025777. Epub 2011 Oct 24.

Reference Type BACKGROUND
PMID: 22023559 (View on PubMed)

Other Identifiers

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2018-A01478-47

Identifier Type: -

Identifier Source: org_study_id